1p36.21CNV Type: Deletion-Duplication
Largest CNV size: 164638 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
796124
12
5
17
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
177202
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
569329
0
3
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
6162
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
164638
1
0
1
nakamine_08_ASD_discovery_cases
Autistic male proband ascertained during the course of a genetic study of autism in the Central Valley of Costa Rica
1
Diagnosis of autism based on meeting full criteria on ADI-R and ADOS module 2.
10 yrs. 3 mos.
Male
124500
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
15771
1
0
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
52413
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
17406
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
14433
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
168717
1
4
5
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
41109
8
1
9
sato_12_ASD_discovery_cases_2
Three additional affected males from four-generation family with ASD/BAP
3
Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
Range, 5 yrs. 8 mos.-95 yrs.
100% Male
70871
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
161265
0
7
7
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
841375
18
5
23
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
1809
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
31396
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
164638
1
0
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
15258
1
0
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
14433
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
37546
3
1
4
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
161265
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
nakamine_08_ASD_discovery_cases
Costa Rican
Array SNP
Affymetrix 500K (NspI and StyI)
HMM
dChip 2006
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_cases-case13015_203
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12790393
12954384
163992
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13017_223
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12800601
13152461
351861
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14056_970
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12794693
12954384
159692
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14234_1920
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12790393
12954384
163992
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20150_1630001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12935680
13151920
216241
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case21008_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1
49791
49791
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2160_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12790393
12954384
163992
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3125_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12800601
13087002
286402
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4150_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14627757
14889993
262237
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5007_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12794693
13363493
568801
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5142_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
13079915
13151920
72006
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5270_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12805784
13385584
579801
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5304_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12794693
13152461
357769
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5409_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12790393
13152461
362069
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6232_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14192496
14330605
138110
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8619_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12782857
12954384
171528
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8645_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
13079915
13146874
66960
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case692-3
5 yrs.
M
ASD
Typical autistic features, no evidence of any growth problems
N/A
14950030
15127232
177203
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002716
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14750604
15281017
530414
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004630
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
13455700
13808184
352485
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005424
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
14750604
15319933
569330
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13876.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
15736485
15742647
6163
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11588.p1
NA
M
ASD
NA
NA
3234
168039
164806
GRCh38
Deletion
No
nakamine_08_ASD_discovery_cases-case1
10 yrs. 3 mos.
M
Autism
Diagnosis of autism based on meeting full criteria on ADI-R and ADOS module 2. ADI-R evaluation: qualitative impairment of reciprocal social interaction score, 29; impairment of communication score, 21; repetitive behaviors & stereotyped patterns score, 6; abnormal development evident before 36 months score, 5. ADOS module 2 evaluation: communication total score, 7; social total score, 11; communication + social score, 18; imagination/creativity score, 2; restricted interests/repetitive behavior score, 3 (classification of autism). Birth/neonatal history: pregnancy complicated by urinary tract infection in 1st trimester, premature ruptures of membranes at 5 months, hyperemesis throughout pregnancy; delivered at full term by spontaneous vaginal delivery without reported complications; Apgar scores 8-8; exhibition of hypotonia, weak suction, and deglution problems at birth; height, weight, and head circumference within normal limits. Developmental milestones: delayed acquisition of motor skills before 6 months of age; held head up at 2 months, displayed social smile at 3 months, independently sat at 9 months, crawled at 12 months, stood up at 14 months, walked at 24 months, ran at 30 months; spoke first words shortly before 26 months, emergence of phrase speech at 84 months; attained vesicourethral sphincter control at 60 months of age, no fecal sphincter control. Motor skills/musculoskeletal characteristics: delayed acquisition of motor skills; problems with equilibrium and balance; motor clumsiness; slight muscular hypotonia; no gait ataxia; Behavioral characteristics: autistic behaviors (hand flapping, immediate and delayed echolalia, use of other persons' bodies to communicate intentions), constant smiling, passive, exhibits little social interest, not aggressive, no self-injurious behaviors, no attention deficits or hyperactivity. Vineland Adaptive Behavioral Scales: communication skills score, 32; daily living skills score, <20; social skills score, 49; adaptive behavior composite score, 31. Sleep disturbances: none. Epilepsy/seizures: none. EEG: normal. Other health concerns: inguinal hernia repaired at 6 yrs. 9 mos., continuing sinus problems. Dysmorphic features: narrow palpebral fissures, protruding ears, somewhat long fingers, bilateral palmar transverse creases; malocclusion with mild protrusion of superior maxilla, multiple dental caries. Growth parameters: height, 133 cm (6th %ile); weight, 27 kg (4th %ile). Family history: mother had difficulties with language acquisition and problems with stuttering; three healthy siblings; two maternal first cousins with unspecified learning problems.
Letier full-scale IQ score of 36
14017599
14142099
124501
GRCh38
Deletion
No
nord_11_ASD_discovery_cases-214-1
ASD
15355970
15371740
15771
Unknown
Deletion
No
pinto_14_ASD_discovery_cases2-case17002_1
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
12748389
12800601
52213
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case00HI1200A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU054104; NDAR ID NDAR_INVCX001LTX)
15465997
15483402
17406
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case93033
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
15795032
15809464
14433
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1199-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
14474657
14643373
168717
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1469-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: no.
12794693
12854043
59351
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-049
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: possible diagnosis. Seizures: yes.
Developmental delay: yes. Intellectual disability: N/A.
12893912
12951631
57720
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-069
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: yes (onset at 6 months).
Developmental delay: yes. Intellectual disability: N/A.
12794693
12854043
59351
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-219
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
12794693
12854043
59351
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11077.p1
12.2
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 36; verbal IQ, 26
13512309
13542778
30469
NCBI36
Deletion
No
sanders_11_ASD_discovery_cases-11551.p1
15.5
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
13878805
13905497
26693
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11583.p1
13
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 53; verbal IQ, 50
13512309
13542778
30469
NCBI36
Deletion
No
sanders_11_ASD_discovery_cases-11765.p1
11.2
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
13281760
13313330
31571
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12153.p1
11.1
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ,66 ; verbal IQ, 51
13281760
13322873
41114
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12463.p1
9.8
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 94; verbal IQ, 73
15455532
15470313
14782
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12656.p1
10.9
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 46; verbal IQ, 29
15013406
15018440
5035
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12930.p1
12.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 57
14861523
14891835
30313
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13216.p1
4.8
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 93
15467516
15482377
14862
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
12786591
12857749
71159
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case2
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
12774110
12785708
11599
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case3
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
13377035
13538299
161265
GRCh37
Duplication
No
yin_16_ASD_discovery_cases-case4
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
13377035
13538299
161265
GRCh37
Duplication
No
yin_16_ASD_discovery_cases-case5
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
13377035
13538299
161265
GRCh37
Duplication
No
yin_16_ASD_discovery_cases-case6
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
13377035
13538299
161265
GRCh37
Duplication
No
yin_16_ASD_discovery_cases-case7
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
13377035
13538299
161265
GRCh37
Duplication
No
yin_16_ASD_discovery_cases-case8
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
13377035
13538299
161265
GRCh37
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036021632_
N/A
N/A
Control
No previous psychiatric history
12800601
13087002
286402
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB270620_0067942650
N/A
N/A
Control
No previous psychiatric history
12805784
12954384
148601
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB357802_1007874407
N/A
N/A
Control
No previous psychiatric history
12790393
13375655
585263
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB382020_1007853702
N/A
N/A
Control
No previous psychiatric history
12805784
12954384
148601
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB414618_1007854093
N/A
N/A
Control
No previous psychiatric history
12790393
13322873
532481
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB462941_1007840754
N/A
N/A
Control
No previous psychiatric history
12773285
13398343
625059
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB553984_1007854146
N/A
N/A
Control
No previous psychiatric history
12851347
13152461
301115
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB556806_1007854703
N/A
N/A
Control
No previous psychiatric history
12794693
13152461
357769
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB609347_1007853750
N/A
N/A
Control
No previous psychiatric history
12820291
13152461
332171
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB634283_1007846481
N/A
N/A
Control
No previous psychiatric history
12811188
13087002
275815
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB658740_1007854250
N/A
N/A
Control
No previous psychiatric history
12790393
13152461
362069
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB669410_0067942584
N/A
N/A
Control
No previous psychiatric history
12674763
12855993
181231
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB814504_1007872259
N/A
N/A
Control
No previous psychiatric history
12805784
12954384
148601
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB836181_0057060970
N/A
N/A
Control
No previous psychiatric history
12794693
13322873
528181
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB868245_1007871688
N/A
N/A
Control
No previous psychiatric history
12851347
13152461
301115
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB900617_1007854746
N/A
N/A
Control
No previous psychiatric history
12790393
13313330
522938
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB944119_1007852896
N/A
N/A
Control
No previous psychiatric history
12790393
12954384
163992
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900104_900104
N/A
N/A
Control
No previous psychiatric history
12782857
12954384
171528
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900149_900149
N/A
N/A
Control
No previous psychiatric history
13079915
13146874
66960
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900482_900482
N/A
N/A
Control
No previous psychiatric history
12924515
13046124
121609
NCBI36
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900927_900927
N/A
N/A
Control
No previous psychiatric history
13079915
13151920
72006
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902548_902548
N/A
N/A
Control
No previous psychiatric history
12782857
12954384
171528
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902643_903006
N/A
N/A
Control
No previous psychiatric history
12786536
12954384
167849
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1243
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
12912088
12913896
1809
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control13901.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
15716236
15747632
31397
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11588.s1
NA
F
Control
NA
NA
3234
168039
164806
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C30862A
N/A
F
Control
NIMH Control (NIMH ID 43699)
15456752
15472009
15258
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11551.s1
12.8
F
Control (matched sibling)
NA
NA
13878805
13905497
26693
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12463.s1
12.3
F
Control (matched sibling)
NA
NA
15455532
15470313
14782
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12656.s1
16.3
M
Control (matched sibling)
NA
NA
15014559
15018440
3882
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12930.s1
14.8
M
Control (matched sibling)
NA
NA
14861523
14899069
37547
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case13015_203
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6
engchuan_15_ASD_discovery_cases-case13017_223
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25
engchuan_15_ASD_discovery_cases-case14056_970
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6
engchuan_15_ASD_discovery_cases-case14234_1920
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6
engchuan_15_ASD_discovery_cases-case20150_1630001
Unknown
PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,PRAMEF6,PRAMEF25
engchuan_15_ASD_discovery_cases-case21008_1
Unknown
engchuan_15_ASD_discovery_cases-case2160_1
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6
engchuan_15_ASD_discovery_cases-case3125_4
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25
engchuan_15_ASD_discovery_cases-case4150_1
Unknown
TBCAP2,KAZN
engchuan_15_ASD_discovery_cases-case5007_3
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,HNRNPCL4,PRAMEF13,PRAMEF18,PRAMEF31P,PRAMEF32P,RNU6-771P,PRAMEF8,PRAMEF14,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25,PRAMEF9,PRAMEF5,PRAMEF33,PRAMEF15
engchuan_15_ASD_discovery_cases-case5142_4
Unknown
PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26
engchuan_15_ASD_discovery_cases-case5270_3
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,HNRNPCL4,PRAMEF13,PRAMEF18,PRAMEF31P,PRAMEF32P,RNU6-771P,PRAMEF8,PRAMEF14,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25,PRAMEF9,PRAMEF5,PRAMEF33,PRAMEF15,PRAMEF19
engchuan_15_ASD_discovery_cases-case5304_3
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25
engchuan_15_ASD_discovery_cases-case5409_3
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25
engchuan_15_ASD_discovery_cases-case6232_6
Unknown
KAZN
engchuan_15_ASD_discovery_cases-case8619_201
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6
engchuan_15_ASD_discovery_cases-case8645_201
Unknown
PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P
gazzellone_14_ASD_discovery_cases-case692-3
Unknown
Unknown
Unknown
TMEM51-AS1,KAZN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002716
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
C1orf195,TMEM51-AS1,TMEM51,FHAD1,KAZN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004630
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BRWD1P1,RNA5SP41,PDPN,LRRC38,PRDM2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005424
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
C1orf195,TMEM51-AS1,TMEM51,FHAD1,KAZN
krumm_15_ASD_discovery_cases-case13876.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
SLC25A34,SLC25A34-AS1,TMEM82
levy_11_ASD_discovery_cases-11588.p1
Maternal
Simplex
Not segregated
nakamine_08_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
RNU6-1265P,KAZN
nord_11_ASD_discovery_cases-214-1
Maternal
TMEM51
pinto_14_ASD_discovery_cases2-case17002_1
qPCR
Maternal
Simplex
Unknown (not tested)
PRAMEF12,C1orf158,PRAMEF1
poultney_13_ASD_discovery_cases-case00HI1200A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CELA2A,CELA2B
prasad_12_ASD_discovery_cases-case93033
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1199-0
qPCR
Paternal
Unknown
Unknown
KAZN
sajan_13_ACC/CBLH/PMG_discovery_cases-case1469-0
Not tested by qPCR
Unknown
Unknown
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF1,PRAMEF11
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-049
Not tested by qPCR
Unknown
Unknown
Unknown
PRAMEF7,RNU6-1072P,PRAMEF10,PRAMEF29P,PRAMEF6
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-069
Not tested by qPCR
Unknown
Unknown
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF1,PRAMEF11
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-219
Not tested by qPCR
Unknown
Unknown
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF1,PRAMEF11
sanders_11_ASD_discovery_cases-11077.p1
Paternal
Simplex (quad-proband matched)
Segregated
PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF9
sanders_11_ASD_discovery_cases-11551.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KAZN
sanders_11_ASD_discovery_cases-11583.p1
Unknown
Simplex (trio)
NA
PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF9
sanders_11_ASD_discovery_cases-11765.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PRAMEF8,PRAMEF33
sanders_11_ASD_discovery_cases-12153.p1
Maternal
Simplex (quad-proband matched)
Segregated
PRAMEF8,PRAMEF33,PRAMEF15
sanders_11_ASD_discovery_cases-12463.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CELA2A,CELA2B
sanders_11_ASD_discovery_cases-12656.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KAZN
sanders_11_ASD_discovery_cases-12930.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KAZN
sanders_11_ASD_discovery_cases-13216.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CELA2A,CELA2B
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF1,PRAMEF11,PRAMEF2
yin_16_ASD_discovery_cases-case2
Unknown
Unknown
Unknown
PRAMEF12
yin_16_ASD_discovery_cases-case3
Unknown
Unknown
Unknown
PRAMEF8,PRAMEF9,PRAMEF13,PRAMEF19,PRAMEF16,PRAMEF20
yin_16_ASD_discovery_cases-case4
Unknown
Unknown
Unknown
PRAMEF8,PRAMEF9,PRAMEF13,PRAMEF19,PRAMEF16,PRAMEF20
yin_16_ASD_discovery_cases-case5
Unknown
Unknown
Unknown
PRAMEF8,PRAMEF9,PRAMEF13,PRAMEF19,PRAMEF16,PRAMEF20
yin_16_ASD_discovery_cases-case6
Unknown
Unknown
Unknown
PRAMEF8,PRAMEF9,PRAMEF13,PRAMEF19,PRAMEF16,PRAMEF20
yin_16_ASD_discovery_cases-case7
Unknown
Unknown
Unknown
PRAMEF8,PRAMEF9,PRAMEF13,PRAMEF19,PRAMEF16,PRAMEF20
yin_16_ASD_discovery_cases-case8
Unknown
Unknown
Unknown
PRAMEF8,PRAMEF9,PRAMEF13,PRAMEF19,PRAMEF16,PRAMEF20
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036021632_
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25
engchuan_15_ASD_discovery_controls-controlB270620_0067942650
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6
engchuan_15_ASD_discovery_controls-controlB357802_1007874407
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,HNRNPCL4,PRAMEF13,PRAMEF18,PRAMEF31P,PRAMEF32P,RNU6-771P,PRAMEF8,PRAMEF14,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25,PRAMEF9,PRAMEF5,PRAMEF33,PRAMEF15,PRAMEF19
engchuan_15_ASD_discovery_controls-controlB382020_1007853702
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6
engchuan_15_ASD_discovery_controls-controlB414618_1007854093
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,HNRNPCL4,PRAMEF13,PRAMEF18,PRAMEF31P,PRAMEF32P,RNU6-771P,PRAMEF8,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25,PRAMEF9,PRAMEF5,PRAMEF33,PRAMEF15
engchuan_15_ASD_discovery_controls-controlB462941_1007840754
Unknown
PRAMEF12,LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,HNRNPCL4,PRAMEF13,PRAMEF18,PRAMEF31P,PRAMEF32P,RNU6-771P,PRAMEF8,PRAMEF14,PRAMEF17,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25,PRAMEF9,PRAMEF5,PRAMEF33,PRAMEF15,PRAMEF19
engchuan_15_ASD_discovery_controls-controlB553984_1007854146
Unknown
PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25
engchuan_15_ASD_discovery_controls-controlB556806_1007854703
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25
engchuan_15_ASD_discovery_controls-controlB609347_1007853750
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25
engchuan_15_ASD_discovery_controls-controlB634283_1007846481
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25
engchuan_15_ASD_discovery_controls-controlB658740_1007854250
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25
engchuan_15_ASD_discovery_controls-controlB669410_0067942584
Unknown
AADACL3,PRAMEF12,LINC01784,PRAMEF30P,HNRNPCL1,C1orf158,PRAMEF1,PRAMEF11
engchuan_15_ASD_discovery_controls-controlB814504_1007872259
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6
engchuan_15_ASD_discovery_controls-controlB836181_0057060970
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,HNRNPCL4,PRAMEF13,PRAMEF18,PRAMEF31P,PRAMEF32P,RNU6-771P,PRAMEF8,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25,PRAMEF9,PRAMEF5,PRAMEF33,PRAMEF15
engchuan_15_ASD_discovery_controls-controlB868245_1007871688
Unknown
PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25
engchuan_15_ASD_discovery_controls-controlB900617_1007854746
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF28P,PRAMEF27,HNRNPCL3,PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26,HNRNPCL4,PRAMEF13,PRAMEF18,PRAMEF31P,PRAMEF32P,RNU6-771P,PRAMEF8,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6,PRAMEF25,PRAMEF9,PRAMEF5,PRAMEF33
engchuan_15_ASD_discovery_controls-controlB944119_1007852896
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6
engchuan_15_ASD_discovery_controls-controlHABC_900104_900104
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6
engchuan_15_ASD_discovery_controls-controlHABC_900149_900149
Unknown
PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P
engchuan_15_ASD_discovery_controls-controlHABC_900482_900482
Unknown
PRAMEF22;PRAMEF5;PRAMEF6
engchuan_15_ASD_discovery_controls-controlHABC_900927_900927
Unknown
PRAMEF34P,PRAMEF35P,HNRNPCL2,PRAMEF36P,PRAMEF26
engchuan_15_ASD_discovery_controls-controlHABC_902548_902548
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6
engchuan_15_ASD_discovery_controls-controlHABC_902643_903006
Unknown
LINC01784,PRAMEF30P,HNRNPCL1,PRAMEF4,PRAMEF7,RNU6-1072P,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF10,PRAMEF29P,PRAMEF6
kanduri_15_ASD_discovery_controls-control_split1243
Unknown
Intergenic CNV: nearest genes, HNRNPCL1(dist=3510),PRAMEF2(dist=3045)
krumm_15_ASD_discovery_controls-control13901.s1
Omni2.5-4v1
Paternal
SLC25A34,SLC25A34-AS1,TMEM82,PLEKHM2
levy_11_ASD_discovery_controls-11588.s1
Maternal
Simplex
NA
poultney_13_ASD_discovery_controls-control04C30862A
Unknown
CELA2A,CELA2B
sanders_11_ASD_discovery_controls-11551.s1
Paternal
Simplex (quad)
NA
KAZN
sanders_11_ASD_discovery_controls-12463.s1
Paternal
Simplex (quad)
NA
CELA2A,CELA2B
sanders_11_ASD_discovery_controls-12656.s1
Paternal
Simplex (quad)
NA
KAZN
sanders_11_ASD_discovery_controls-12930.s1
Paternal
Simplex (quad)
NA
KAZN
No Animal Model Data Available